The Role of the Hand Surgeon in the Diagnosis of Amyloidosis

Amyloidosis is a disorder characterised by progressive extracellular deposition of misfolded proteins, which can result in significant cardiac and neurologic morbidity. Traditionally, haematologists and cardiologists have served as primary diagnosticians for this disease when patients present with symptomatic systemic disease. However, musculoskeletal manifestations of the disease, such as carpal tunnel syndrome, trigger finger, spontaneous distal biceps tendon rupture and rotator cuff disease, are now recognised to frequently precede cardiac or neurologic involvement by several years. With the recent development of effective disease-modifying therapies, orthopaedic surgeons and hand surgeons in particular may play an increasingly important role in early diagnosis of amyloidosis. Recognition of these associated musculoskeletal conditions presents hand surgeons with a unique opportunity to perform targeted biopsies, allowing for earlier referrals, initiation of disease-modifying therapies and thus potentially stalling a devastating multiorgan disease. Level of Evidence: Level V (Therapeutic).